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Congenital cataract

Periasamy Parikumar, Kazutoshi Haraguchi, Rajappa Senthilkumar, Samuel Jk Abraham
Transplantation of in vitro expanded human corneal endothelial precursors (HCEP) cells using a nanocomposite (D25-NC) gel sheet as supporting material in bovine's cornea has been earlier reported. Herein we report the transplantation of HCEP cells derived from a cadaver donor cornea to three patients using the NC gel sheet. In three patients with bullous keratopathy, one after cataract surgery, one after trauma and another in the corneal graft, earlier performed for congenital corneal dystrophy, not amenable to medical management HCEP cells isolated from a human cadaver donor cornea in vitro expanded using a thermoreversible gelation polymer (TGP) for 26 days were divided into three equal portions and 1...
2018: American Journal of Stem Cells
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
March 3, 2018: Clinical Neurology and Neurosurgery
Ashlesha Kaushik, Sanjay Verma, Praveen Kumar
Congenital rubella syndrome (CRS) is one of the most devastating congenital infections and yet the only one which is vaccine preventable and is a public health challenge for clinicians and policymakers across the developing world including India. The clinical manifestations of CRS include growth retardation, cardiac defects, cataracts, and hearing impairment. The World Health Organization (WHO) estimates that worldwide over 100,000 babies are born with CRS every year despite the availability of safe and inexpensive vaccines, thus highlighting the need for broader vaccination coverage programs...
January 2018: Indian Journal of Public Health
Alexandre Guyonnet, Elise Donzel, Aurélie Bourguet, Sabine Chahory
OBJECTIVE: To describe the epidemiology and the clinical presentation of cataracts in a population of cats in France. PROCEDURES: A review of medical records of cats presented to the Ophthalmology Unit of the National Veterinary School of Alfort between January 2010 and June 2017 was carried out to identify cats affected by cataracts. The signalment of affected cats, medical history, etiology of cataract, age of onset, stage of development, location of opacities, and concurrent ocular lesions were evaluated...
March 6, 2018: Veterinary Ophthalmology
Monali S Malvankar-Mehta, Ryan Wilson, Erik Leci, Kelly Hatch, Sapna Sharan
Background: The objective of this research was to conduct a systematic review and cost analysis to summarize, from the Ministry of Health perspective, the costs families might incur because of their child's prescription for refractive errors and amblyopia correction. Methods: Databases including MEDLINE, Embase, BIOSIS, CINAHL, HEED, ISI Web of Science, and the Cochrane Library as well as the gray literature were searched. Systematic review was conducted using EPPI-Reviewer 4...
2018: Risk Management and Healthcare Policy
Diego Alejandro Valera Cornejo, Abel Flores Boza
Objective: To determine the relationship between the preoperative axial length and the myopic shift over 3 years after congenital cataract surgery with primary intraocular lens implantation and other related factors. Methods: In this retrospective cohort study, the axial length was measured and assigned into 2 groups (>21.5 mm and ≤21.5 mm), visual axis obscuration, laterality of cataract, age of surgery and follow-up time were assessed and compared to the myopic shift...
2018: Clinical Ophthalmology
Xiukun Cui, Zheng Zhou, Keke Zhu, Ruiping Feng, Jiuli Han, Mengyuan Li, Shuangfeng Wang, Jing Li, Jing Zhang, Qiying Jiang, Wanting Zhang, Hongmei Mu, Yutao Liu, Yanzhong Hu
Mutations in GJA8 are associated with hereditary autosomal dominant and recessive cataract formation. In this study, a novel insert mutation in GJA8 was identified in a Chinese congenital cataract family and cosegregated with the disease in this pedigree. This insert mutation introduces five additional amino acid residues YAVHY after histidine at the 95 site (p.H95_A96insYAVHY) within the second transmembrane (TM2) domain of Cx50 protein (Cx50-insert). Ectopic expression of Cx50-insert protein impairs the hemichannel functions and gap junction activity compared to wild-type Cx50 protein in human lens epithelial cells...
February 28, 2018: DNA and Cell Biology
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p...
February 20, 2018: Human Genetics
Shazia Micheal, Ilse Therésia Gabriëla Niewold, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Muhammad Imran Khan, Arthur A B Bergen
Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina microarray. Homozygosity mapping identified a homozygous region of 4.4 Mb encompassing the gene GJA3 . Sanger sequence analysis of the GJA3 gene revealed a novel homozygous variant c.950dup p.(His318ProfsX8) segregating in an autosomal recessive (AR) manner...
February 20, 2018: Genes
Lorelei L Clarke, Kevin D Niedringhaus, K Paige Carmichael, M Kevin Keel, Heather Fenton
Congenital ocular abnormalities in cervids have been previously reported as individual cases from various regions of the United States and include microphthalmia, anophthalmia, congenital cataracts, dermoids, and colobomata. A common underlying cause for these abnormalities, such as nutritional deficiencies, environmental toxin exposures, or genetic mutations, has not been established. This retrospective study summarized and compared cases of suspected congenital ocular abnormalities in free-ranging white-tailed deer ( Odocoileus virginianus) submitted to the Southeastern Cooperative Wildlife Disease Study (SCWDS) in Athens, Georgia, to the preexisting literature...
January 1, 2018: Veterinary Pathology
Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected...
2018: PloS One
Lusi Zhang, Youling Liang, Yedi Zhou, Huilan Zeng, Songbai Jia, Jingming Shi
Congenital cataract is leading cause of visual impairment and blindness in children worldwide. Approximately one-third of congenital cataract cases are familial, whose genetic etiology can be distinguished by targeted exome sequencing. Here, a three-generation congenital cataract pedigree was recruited, and physical and ophthalmologic examinations were taken. Targeted exome sequencing of 139 cataract-related genes was performed on the proband III:1. Sanger sequencing was used to validate the presence of variation identified via exome sequencing in family members and 200 controls...
2018: Tohoku Journal of Experimental Medicine
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
Parveen Sen, Vinay Kumar S, Pramod Bhende, Pukhraj Rishi, Ekta Rishi, Chetan Rao, Dhanashree Ratra, Pradeep Susvar, Sreelakshmi Kummamuri, Sufiyan Shaikh, Lingam Gopal
OBJECTIVE: To study the outcome and complications of sutured scleral fixated intraocular lenses (SSFIOL) in children. DESIGN: Retrospective study. SUBJECTS: A total of 279 eyes of 230 children who underwent SSFIOL at ≤18 years of age in a tertiary eye care centre in India. METHODS: Treatment-naive children having traumatic cataract or subluxated lens underwent a single-sitting lensectomy and pars plana vitrectomy (PPV), along with SSFIOL insertion...
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Evren Gumus
BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones...
February 8, 2018: Ophthalmic Genetics
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
BACKGROUND: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts and anterior segment mesenchymal disorders. MATERIALS AND METHODS: Targeted sequencing of 187 genes involved in ocular development was performed in 96 patients with mainly anophthalmia and microphthalmia. Additionally, Sanger sequencing analysis of PITX3 was performed on a second cohort of 32 index cases with congenital cataract and Peters anomaly and/or sclereocornea...
February 6, 2018: Ophthalmic Genetics
Narjes Jafari, Karl Golnik, Mansoor Shahriari, Parvaneh Karimzadeh, Sayena Jabbehdari
Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of 213 patients with 34 different neuro-metabolic disorders were included...
January 2018: Journal of Ophthalmic & Vision Research
Huajin Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Shijing Wu, Ruifang Sui
Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect. Genetic analysis showed that 3 affected males carried a novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), and 2 female carriers were heterozygous for the same variant...
February 5, 2018: Scientific Reports
A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González
CASE REPORT: The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. DISCUSSION: Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual...
January 31, 2018: Archivos de la Sociedad Española de Oftalmología
Pratik Chougule, Shamsiya Murat, Ashik Mohamed, Ramesh Kekunnaya
PURPOSE: To study the pattern of compliance to follow-up of children less than 5 years of age undergoing surgery for congenital and developmental cataract over a period of 5 years. METHODS: It is a retrospective study of children less than 5 years of age undergoing cataract surgery between January and December 2010 for congenital or developmental cataract and followed up until 31 December 2015. Age, sex, distance from hospital and urban or rural habitat, delay in presentation, socioeconomic status, laterality, morphology and type of cataract, implantation of intraocular lens and interventions done were noted...
January 31, 2018: British Journal of Ophthalmology
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